ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1A>T (p.Met1Leu)

gnomAD frequency: 0.00001  dbSNP: rs121434258
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003478 SCV000793442 pathogenic Polyglandular autoimmune syndrome, type 1 2017-08-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091469 SCV001247535 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000003478 SCV001385844 pathogenic Polyglandular autoimmune syndrome, type 1 2023-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 3314). For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed in individuals with autosomal recessive autoimmune polyendocrinopathy syndrome (PMID: 16965330, 19758376, 20407228, 28446514, 28911151). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the AIRE mRNA. The next in-frame methionine is located at codon 184.
OMIM RCV000003478 SCV000023636 pathogenic Polyglandular autoimmune syndrome, type 1 2006-10-01 no assertion criteria provided literature only
Natera, Inc. RCV000003478 SCV002083837 pathogenic Polyglandular autoimmune syndrome, type 1 2020-12-16 no assertion criteria provided clinical testing

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